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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNA2D2

Variant:p.K155_E156Splc

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CACNA2D2

NM_006030.4:p.K155_E156Splc

hg38:chr3:50387613 C>T

Associated Papers

Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.

Tao J et al.

Pediatric Research, 2015

26322415 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."